Variant report

Variant	rs9469966
Chromosome Location	chr6:35197233-35197234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:35197151-35200201	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr6:35197190-35197346	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35182418..35185303-chr6:35197191..35199627,2	MCF-7	breast:
2	chr6:35185173..35187713-chr6:35194979..35197264,2	K562	blood:
3	chr6:35196327..35198090-chr6:35203601..35206096,2	MCF-7	breast:
4	chr6:35195991..35200691-chr6:35207151..35212650,5	K562	blood:
5	chr6:35129806..35132792-chr6:35197170..35199424,2	MCF-7	breast:
6	chr6:35196232..35199243-chr6:35200230..35204307,5	K562	blood:
7	chr6:35181540..35184430-chr6:35195230..35197391,2	K562	blood:
8	chr6:35177739..35179497-chr6:35194897..35197344,2	K562	blood:
9	chr6:35195154..35200305-chr6:35202213..35207133,5	K562	blood:
10	chr6:35192773..35195560-chr6:35195988..35198811,2	MCF-7	breast:
11	chr6:35196748..35200110-chr6:35208798..35212197,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272374	TF binding region
ENSG00000146197	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1034450	0.81[AMR][1000 genomes]
rs12332985	0.92[AMR][1000 genomes]
rs16874062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874262	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2187903	0.81[AMR][1000 genomes]
rs2228265	0.81[AMR][1000 genomes]
rs28627111	0.81[AMR][1000 genomes]
rs59895076	0.81[AMR][1000 genomes]
rs60569490	0.81[AMR][1000 genomes]
rs60812576	0.83[AFR][1000 genomes]
rs6901580	0.81[AMR][1000 genomes]
rs6906117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs743965	0.81[AMR][1000 genomes]
rs9462061	0.83[AFR][1000 genomes]
rs9462062	0.81[AMR][1000 genomes]
rs9462064	0.81[AMR][1000 genomes]
rs9462066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469959	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9469960	0.81[AMR][1000 genomes]
rs9469962	0.82[AFR][1000 genomes]
rs9469965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469967	0.81[AMR][1000 genomes]
rs9469969	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9469973	0.82[AFR][1000 genomes]
rs9469977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469984	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469993	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35182400-35209000	Weak transcription	A549	lung
2	chr6:35182600-35198600	Weak transcription	Gastric	stomach
3	chr6:35183200-35198800	Weak transcription	Ovary	ovary
4	chr6:35184800-35205600	Weak transcription	Fetal Brain Female	brain
5	chr6:35185400-35198800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:35185800-35198400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:35186200-35202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:35186400-35198000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:35186400-35212000	Weak transcription	NHDF-Ad	bronchial
10	chr6:35186600-35198200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:35186600-35204600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:35186600-35205400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:35186800-35212000	Weak transcription	Dnd41	blood
14	chr6:35187000-35197600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:35187400-35198400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:35187600-35198400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:35188000-35198400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:35188000-35198600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:35188000-35199400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:35188200-35200400	Genic enhancers	Osteobl	bone
21	chr6:35188200-35205800	Weak transcription	Fetal Kidney	kidney
22	chr6:35188200-35206400	Weak transcription	NH-A	brain
23	chr6:35188400-35199600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:35189200-35200000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:35189600-35205800	Weak transcription	Brain Germinal Matrix	brain
26	chr6:35189800-35197600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:35190000-35205600	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:35190200-35212000	Weak transcription	Brain Angular Gyrus	brain
29	chr6:35190600-35201800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:35191200-35212000	Weak transcription	Primary T cells from cord blood	blood
31	chr6:35191400-35198400	Weak transcription	Brain Substantia Nigra	brain
32	chr6:35191400-35226000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:35191600-35198000	Weak transcription	Adipose Nuclei	Adipose
34	chr6:35192200-35211400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:35192600-35198400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:35192800-35198000	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:35193400-35198400	Weak transcription	Brain Anterior Caudate	brain
38	chr6:35193800-35198200	Weak transcription	Liver	Liver
39	chr6:35194000-35201400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:35194000-35209400	Weak transcription	Thymus	Thymus
41	chr6:35194000-35225600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:35194200-35202600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:35194800-35197600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:35194800-35198400	Strong transcription	Fetal Stomach	stomach
45	chr6:35194800-35202800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:35195000-35198800	Weak transcription	Pancreas	Pancrea
47	chr6:35195200-35198800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:35195400-35198400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:35195600-35199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:35195600-35210600	Weak transcription	Spleen	Spleen

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